ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-hypotonia-movement disorder syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NC_000023.11:g.41344090_41344091AG[2]
NC_000023.11:g.41344097dup
NC_000023.11:g.41344261G>C
NC_000023.11:g.41346570dup
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.4(DDX3X):c.1463G>A (p.Arg488His) rs796052235

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